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progressive myoclonus epilepsy 1A
Summary
- Synonym
-
- EPM1A
- Definition
- An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
- Super Class
- Unverricht-Lundborg syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111452
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P15289 | Arylsulfatase A | |
| P17858 | ATP-dependent 6-phosphofructokinase, liver type | |
| Q13510 | Acid ceramidase | |
| Q99519 | Sialidase-1 | |
| Q9BVK6 | Transmembrane emp24 domain-containing protein 9 |
